Gimelli G - Search Results

1

1p31.1 microdeletion including only NEGR1 gene in two patients.

Tassano E, Uccella S, Giacomini T, Fiorio P, Tavella E, Malacarne M, Gimelli G, Coviello D, Ronchetto P. Tassano E, et al. Among authors: gimelli g. Eur J Med Genet. 2020 Jun;63(6):103919. doi: 10.1016/j.ejmg.2020.103919. Epub 2020 Mar 21. Eur J Med Genet. 2020. PMID: 32209393

2

RORB gene and 9q21.13 microdeletion: report on a patient with epilepsy and mild intellectual disability.

Baglietto MG, Caridi G, Gimelli G, Mancardi M, Prato G, Ronchetto P, Cuoco C, Tassano E. Baglietto MG, et al. Among authors: gimelli g. Eur J Med Genet. 2014 Jan;57(1):44-6. doi: 10.1016/j.ejmg.2013.12.001. Epub 2013 Dec 17. Eur J Med Genet. 2014. PMID: 24355400

3

Interstitial 9p24.3 deletion involving only DOCK8 and KANK1 genes in two patients with non-overlapping phenotypic traits.

Tassano E, Accogli A, Pavanello M, Bruno C, Capra V, Gimelli G, Cuoco C. Tassano E, et al. Among authors: gimelli g. Eur J Med Genet. 2016 Jan;59(1):20-5. doi: 10.1016/j.ejmg.2015.11.011. Epub 2015 Dec 2. Eur J Med Genet. 2016. PMID: 26656975

4

Characterization of the Phenotype Associated with Microduplication Reciprocal to NF1 Microdeletion Syndrome.

Tassano E, Giacomini T, Severino M, Gamucci A, Fiorio P, Gimelli G, Ronchetto P. Tassano E, et al. Among authors: gimelli g. Cytogenet Genome Res. 2017;152(1):22-28. doi: 10.1159/000477292. Epub 2017 Jun 13. Cytogenet Genome Res. 2017. PMID: 28605748

5

3q29 microduplication syndrome: Description of two new cases and delineation of the minimal critical region.

Tassano E, Uccella S, Giacomini T, Severino M, Siri L, Gherzi M, Celle ME, Porta S, Gimelli G, Ronchetto P. Tassano E, et al. Among authors: gimelli g. Eur J Med Genet. 2018 Aug;61(8):428-433. doi: 10.1016/j.ejmg.2018.02.011. Epub 2018 Mar 1. Eur J Med Genet. 2018. PMID: 29501613

6

'Distal 16p12.2 microdeletion' in a patient with autosomal recessive deafness-22.

Tassano E, Ronchetto P, Calcagno A, Fiorio P, Gimelli G, Capra V, Scala M. Tassano E, et al. Among authors: gimelli g. J Genet. 2019 Jun;98(2):56. J Genet. 2019. PMID: 31204719 Free article.

7

Expanding the phenotype associated with interstitial 6p25.1p24.3 microdeletion: a new case and review of the literature.

Tassano E, Uccella S, Severino M, Giacomini T, Nardi F, Gimelli G, Tavella E, Ronchetto P, Malacarne M, Coviello D. Tassano E, et al. Among authors: gimelli g. J Genet. 2021;100:9. J Genet. 2021. PMID: 33707360 Free article. Review.

8

Clinical and molecular delineation of a 16p13.2p13.13 microduplication.

Tassano E, Alpigiani MG, Calcagno A, Salvati P, De Miglio L, Fiorio P, Cuoco C, Gimelli G. Tassano E, et al. Among authors: gimelli g. Eur J Med Genet. 2015 Mar;58(3):194-8. doi: 10.1016/j.ejmg.2014.12.016. Epub 2015 Jan 14. Eur J Med Genet. 2015. PMID: 25596524

9

17q23.3 de novo microdeletion involving only TANC2 gene: A new case.

Tassano E, Accogli A, Ronchetto P, Tortora D, Tavella E, Gimelli G, Mancardi M, Malacarne M, Coviello DA. Tassano E, et al. Among authors: gimelli g. Eur J Med Genet. 2020 Dec;63(12):104094. doi: 10.1016/j.ejmg.2020.104094. Epub 2020 Nov 4. Eur J Med Genet. 2020. PMID: 33160097

10

Heterozygous deletion of CHL1 gene: detailed array-CGH and clinical characterization of a new case and review of the literature.

Tassano E, Biancheri R, Denegri L, Porta S, Novara F, Zuffardi O, Gimelli G, Cuoco C. Tassano E, et al. Among authors: gimelli g. Eur J Med Genet. 2014 Nov-Dec;57(11-12):626-9. doi: 10.1016/j.ejmg.2014.09.007. Eur J Med Genet. 2014. PMID: 25451713 Review.

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